chr1:40305783:T>C Detail (hg38) (COL9A2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:40,771,455-40,771,455 View the variant detail on this assembly version. |
| hg38 | chr1:40,305,783-40,305,783 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001852.3:c.1054-15A>G | |
| Ensemble | ENST00000372748.8:c.1054-15A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2018-01-13 | criteria provided, single submitter | Epiphyseal dysplasia, multiple, 2 |
germline
|
Detail |
Likely benign
|
2023-11-27 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001852.4(COL9A2):c.1054-15A>G AND Epiphyseal dysplasia, multiple, 2 | ClinVar | Detail |
| NM_001852.4(COL9A2):c.1054-15A>G AND not provided | ClinVar | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs774104069 dbSNP
- Genome
- hg38
- Position
- chr1:40,305,783-40,305,783
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8482
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119654
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.1787152957694685E-5
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